ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.350-4_350-3del

dbSNP: rs779152034
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002595124 SCV003492418 likely benign Congenital myasthenic syndrome 12 2024-05-06 criteria provided, single submitter clinical testing

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